V63A (p.Val63Ala) variant of MAOA (P21397)
V63A (p.Val63Ala) in MAOA (P21397) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Brunner syndrome; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
V63A (p.Val63Ala) variant details
- p.Val63Ala
- rs754172029
- ClinGen CA10390736
- ClinVar RCV003871213
- ClinVar RCV004987124
- Uncertain significance
- Brunner syndrome; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.693
- REVEL 0.76
- MetaLR 0.79
- MetaSVM 0.67
- CADD 23.70
- PolyPhen-2 0.64
- SIFT 0.03
- ClinVar: Uncertain significance (Brunner syndrome; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)